Novel de novo nonsense mutation of MECP2
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Soo-Jeong Kim; Edwin H. Cook Jr.
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Article
📅
2000
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John Wiley and Sons
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English
⚖ 35 KB
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Because of the recent identification of several mutations of methyl-CpG-binding protein 2 (MECP2) in patients with Rett syndrome (RTT), a patient with suspected RTT from an autism clinic was screened for mutations. She was found to have a novel heterozygous nonsense mutation, 129C>T (Q19X), which le